Variant report

Variant	rs16866506
Chromosome Location	chr3:191086291-191086292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191084566..191087269-chr3:191092450..191094970,3	MCF-7	breast:
2	chr3:191071589..191073614-chr3:191084774..191087547,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10513865	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1369278	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1369279	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1474188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16822368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16822380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16822451	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16822489	1.00[CEU][hapmap]
rs16848976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16866503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1715641	0.84[CHB][hapmap]
rs2117548	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2293379	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4247189	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4247190	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs436393	0.81[CHB][hapmap]
rs4677633	0.94[ASN][1000 genomes]
rs4677724	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4677731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57369465	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs57831251	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58077600	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58596458	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58631024	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58648691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59491001	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60089463	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60176909	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60204557	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9812544	0.95[ASN][1000 genomes]
rs9832656	0.92[ASN][1000 genomes]
rs9838800	0.92[ASN][1000 genomes]
rs9844500	0.92[ASN][1000 genomes]
rs9854318	0.92[ASN][1000 genomes]
rs9854581	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428100	chr3:190793797-191092633	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv592852	chr3:191073228-191093310	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv592853	chr3:191073228-191094985	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:191071000-191088400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
4	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
5	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:191073600-191090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:191074600-191092800	Weak transcription	Esophagus	oesophagus
10	chr3:191074600-191094000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:191074800-191094200	Weak transcription	A549	lung
12	chr3:191075000-191097400	Weak transcription	Thymus	Thymus
13	chr3:191075600-191087000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:191076000-191088800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:191076000-191092800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:191076200-191091000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:191077200-191086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:191077600-191094200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:191078000-191087600	Weak transcription	Psoas Muscle	Psoas
20	chr3:191078000-191089200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr3:191079400-191093000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:191079400-191094200	Weak transcription	Brain Anterior Caudate	brain
23	chr3:191079400-191094800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:191079600-191087600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:191079600-191088800	Weak transcription	Fetal Brain Male	brain
27	chr3:191079600-191089800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:191079600-191089800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:191079600-191092600	Weak transcription	Primary T cells from cord blood	blood
30	chr3:191079600-191099200	Weak transcription	Spleen	Spleen
31	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:191079600-191121200	Weak transcription	Gastric	stomach
33	chr3:191079800-191094200	Weak transcription	Brain Substantia Nigra	brain
34	chr3:191080000-191087600	Weak transcription	Fetal Kidney	kidney
35	chr3:191080200-191086800	Weak transcription	Brain Germinal Matrix	brain
36	chr3:191080200-191094600	Weak transcription	Stomach Mucosa	stomach
37	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
39	chr3:191080400-191092800	Weak transcription	Fetal Intestine Small	intestine
40	chr3:191080600-191087600	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:191080600-191088800	Weak transcription	Lung	lung
42	chr3:191080600-191092800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:191080600-191094200	Weak transcription	Right Ventricle	heart
44	chr3:191080600-191094400	Weak transcription	Brain Angular Gyrus	brain
45	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:191080800-191087400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:191081200-191088000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:191081600-191086800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:191081600-191087400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:191081600-191087400	Weak transcription	Fetal Thymus	thymus

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